161
(76.8%)

Spondyloepiphyseal dysplasia, Cantu type

Blepharophimosis Brachydactyly Rhizo-meso-acromelic limb shortening Short long bone Thick upper lip vermilion

Autosomal dominant inheritance

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).

162
(76.8%)

Congenital diaphragmatic hernia

Absent radius Adactyly Cleft lip Ectropion Micromelia

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

163
(76.7%)

Mesomelia-synostoses syndrome

Brachydactyly Downslanted palpebral fissures Long philtrum Micrognathia Micromelia

Autosomal dominant inheritance

Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.

164
(76.7%)

Schizencephaly

Bilateral cleft lip Cryptophthalmos Micrognathia

Autosomal dominant inheritance Autosomal recessive inheritance

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.

165
(76.7%)

Dubowitz syndrome

Aplasia/Hypoplasia of the thumb Broad thumb Epicanthus Micrognathia Submucous cleft hard palate

Autosomal recessive inheritance

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

166
(76.7%)

Ulnar-mammary syndrome

Aplasia of the ulna Hypodontia Short distal phalanx of finger

Autosomal dominant inheritance

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

167
(76.7%)

Myhre syndrome

Blepharophimosis Mandibular prognathia Short palm Unilateral cleft lip

Autosomal dominant inheritance

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

168
(76.6%)

Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

Absent thumb Epicanthus Hypoplasia of the maxilla Smooth philtrum

Autosomal dominant inheritance

169
(76.6%)

Acromicric dysplasia

Long eyelashes Long philtrum Short metacarpal Short palm

Autosomal dominant inheritance

A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

169
(76.6%)

Intellectual disability-sparse hair-brachydactyly syndrome

Broad distal phalanx of finger Downslanted palpebral fissures Short palm Smooth philtrum

Autosomal dominant inheritance Autosomal recessive inheritance

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

171
(76.6%)

Tibial aplasia-ectrodactyly syndrome

Aplasia/Hypoplasia of the ulna Fibular hypoplasia Overfolded helix

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

172
(76.6%)

AREDYLD syndrome

Brachydactyly Mandibular prognathia Smooth philtrum Upslanted palpebral fissure

Autosomal recessive inheritance

A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.

173
(76.5%)

Toriello-Lacassie-Droste syndrome

Epicanthus Eyelid coloboma Short palm

Autosomal dominant inheritance Autosomal recessive inheritance

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

174
(76.5%)

Orofaciodigital syndrome type 1

Brachydactyly Epicanthus Median cleft lip Micrognathia Short toe

X-linked dominant inheritance

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

175
(76.5%)

Anodontia

Adactyly Cleft lip Micrognathia Telecanthus

Autosomal recessive inheritance

An extreme developmental dental anomaly characterized by the complete absence of all teeth.

176
(76.5%)

Mosaic trisomy 1

Downslanted palpebral fissures Hand clenching Microretrognathia Short upper lip

176
(76.5%)

15q overgrowth syndrome

Downslanted palpebral fissures Large hands Microretrognathia Smooth philtrum

A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.

178
(76.5%)

XY type gonadal dysgenesis-associated anomalies syndrome

Biparietal narrowing Broad thumb Epicanthus Large hands Non-midline cleft lip

Autosomal recessive inheritance

Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.

179
(76.3%)

Acrootoocular syndrome

Anodontia Downslanted palpebral fissures Micrognathia Short finger Short metacarpal

Autosomal recessive inheritance

A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.

179
(76.3%)

Frontometaphyseal dysplasia

Downslanted palpebral fissures High palate Irregular metacarpals Micrognathia Short distal phalanx of the thumb

A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

181
(76.2%)

Distal monosomy 17q

Abnormality of the philtrum Aplasia/Hypoplasia of the thumb Micromelia Upslanted palpebral fissure

A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.

182
(76.2%)

Aicardi syndrome

Cleft upper lip Missing ribs Small hand Sparse lateral eyebrow

X-linked dominant inheritance

A rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.

183
(76.1%)

2q32q33 microdeletion syndrome

Arachnodactyly Broad thumb Downslanted palpebral fissures Long philtrum Micrognathia

Autosomal dominant inheritance

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

183
(76.1%)

3p25.3 microdeletion syndrome

Broad thumb Epicanthus Micrognathia Tapered finger Thin upper lip vermilion

3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.

185
(76.1%)

Antley-Bixler syndrome

Downslanted palpebral fissures Long philtrum Proximal femoral focal deficiency Radioulnar synostosis

A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

186
(76.1%)

Tetrasomy 12p

Micromelia Short femur Telecanthus Thick upper lip vermilion

Somatic mosaicism

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.

187
(76.0%)

Multiple osteochondromas

Abnormality of the dentition Hypoplasia of the ulna Micrognathia

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

188
(76.0%)

Crossed polysyndactyly

Abnormality of the philtrum Aplasia/Hypoplasia of the thumb Upslanted palpebral fissure

Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.

189
(75.9%)

Sheldon-Hall syndrome

Aplasia/Hypoplasia of the radius Epicanthus High palate Micrognathia Overlapping fingers

Autosomal dominant inheritance

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

190
(75.9%)

Wilson-Turner syndrome

Micrognathia Small hand Thick eyebrow Thin upper lip vermilion

X-linked recessive inheritance X-linked dominant inheritance

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

191
(75.9%)

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Downslanted palpebral fissures Long philtrum Retrognathia Short palm

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).

192
(75.8%)

Down syndrome

Brachydactyly Epicanthus Short femur Thick lower lip vermilion

Sporadic

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

193
(75.7%)

Urban-Rogers-Meyer syndrome

Abnormality of the philtrum Brachydactyly Epicanthus Micrognathia Short foot

Autosomal recessive inheritance

This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.

193
(75.7%)

Temtamy syndrome

Brachydactyly Long philtrum Micrognathia Short toe Telecanthus

Autosomal recessive inheritance

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

193
(75.7%)

Autosomal recessive faciodigitogenital syndrome

Brachydactyly Long philtrum Micrognathia Short foot Telecanthus

Autosomal recessive inheritance

A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

193
(75.7%)

Tetrasomy 5p

Long philtrum Micrognathia Short hallux Upslanted palpebral fissure

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).

197
(75.7%)

Trisomy 12p

Epicanthus Everted lower lip vermilion Genu valgum Large hands Micrognathia

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.

198
(75.6%)

Kindler syndrome

Cheilitis Ectropion Short 4th metacarpal

Autosomal recessive inheritance

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

198
(75.6%)

2q37 microdeletion syndrome

Short foot Short metacarpal Short palm Thin vermilion border Upslanted palpebral fissure

Autosomal dominant inheritance

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

200
(75.4%)

4q21 microdeletion syndrome

Long eyelashes Micromelia Short foot Short palm Short philtrum

Sporadic

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.